NM_000088.4(COL1A1):c.441del (p.Gly148fs) AND not provided

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Sep 10, 2019
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000991597.4

Allele description [Variation Report for NM_000088.4(COL1A1):c.441del (p.Gly148fs)]

NM_000088.4(COL1A1):c.441del (p.Gly148fs)

Gene:

COL1A1:collagen type I alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q21.33

Genomic location:

Preferred name:

NM_000088.4(COL1A1):c.441del (p.Gly148fs)

HGVS:

NC_000017.11:g.50199261del
NG_007400.1:g.7384del
NM_000088.4:c.441delMANE SELECT
NP_000079.2:p.Gly148fs
LRG_1t1:c.441del
LRG_1:g.7384del
NC_000017.10:g.48276617del
NC_000017.10:g.48276622del
NM_000088.3:c.441del
NM_000088.3:c.441delC

Protein change:

G148fs

Links:

dbSNP: rs1473458290

NCBI 1000 Genomes Browser:

rs1473458290

Molecular consequence:

NM_000088.4:c.441del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001143190	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Pathogenic (Mar 20, 2019)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 26627451, 21667357, 26467025
SCV002504174	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Sep 10, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001143190

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Pathogenic
(Mar 20, 2019)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV002504174

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Sep 10, 2019)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta.

Lin HY, Chuang CK, Su YN, Chen MR, Chiu HC, Niu DM, Lin SP.

Orphanet J Rare Dis. 2015 Dec 1;10:152. doi: 10.1186/s13023-015-0370-2.

PubMed [citation]

PMID:: 26627451
PMCID:: PMC4666204

The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta.

Zhang ZL, Zhang H, Ke YH, Yue H, Xiao WJ, Yu JB, Gu JM, Hu WW, Wang C, He JW, Fu WZ.

J Bone Miner Metab. 2012 Jan;30(1):69-77. doi: 10.1007/s00774-011-0284-6. Epub 2011 Jun 14.

PubMed [citation]

PMID:: 21667357

See all PubMed Citations (3)

Details of each submission

From Athena Diagnostics, SCV001143190.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and found in general population data that is consistent with pathogenicity.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From GeneDx, SCV002504174.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; No data available from control populations to assess the frequency of this variant; This variant is associated with the following publications: (PMID: 26627451, 21667357)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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